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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

A new gene mutation causes insulin resistance in a girl and her mother.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A specific gene mutation causes a severe skin disorder in a family.

Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

Certain genetic markers may increase or decrease prostate cancer risk.

Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.

A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A girl had rickets due to a gene mutation affecting vitamin D response.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.